RESUMO
PURPOSE: Uveitis may rarely reveal sarcoidosis in Caucasian patients. Our objective was to analyze the clinical manifestations, and the outcome in a group of patients in whom uveitis was the presenting manifestation of sarcoidosis. METHODS: Retrospective study including 23 patients (mean age: 50.3±14.5 years) diagnosed with sarcoidosis after an episode of uveitis. Granulomatous lesions were documented in 14 patients. RESULTS: Ophthalmological examination revealed anterior uveitis (n=5), intermediate uveitis (n=2), posterior uveitis (n=25) and panuveitis (n=11). Ocular inflammation was bilateral in 16 patients (69,6%), typical aspects of granulomatous uveitis were found in only 16 eyes over 39 (41%), posterior uveitis was found in 18 eyes (46.2%), with an averaged visual acuity of 5/10. Macular oedema was noted in five patients. Suggestive signs of ocular sarcoidosis were present in 43% of the patients. Stage 1 or 2 pulmonary involvement (n=22), musculoskeletal (22%), skin (13%), or spleen (9%) involvements were the most common findings. Oral corticosteroids were necessary in 91.3% of the patients, immunosuppressive agents in 26.1%, with a prolonged treatment greater than two years in 58%. The visual prognosis was good, with visual acuity greater than 6/10 in 96% of the cases if the ocular inflammation spared retina and choroid. However, a visual acuity less than 6/10 was observed in 44% of the cases when the posterior segment was involved. CONCLUSION: Sarcoidosis may be revealed by an intraocular inflammation, with typical patterns in only 43% of the cases. Sarcoidosis should therefore be included in the differential diagnosis of every uveitis. Oral corticosteroids are required in almost all cases, owing to ocular involvement rather than visceral involvement.
Assuntos
Sarcoidose/complicações , Sarcoidose/diagnóstico , Uveíte/etiologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto JovemRESUMO
Type 1 myotonic dystrophy is an autosomal dominant inherited disorder related to the expansion of a trinucleotide (CTG) repeat in the exon 15 in the 3'-untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Mutant transcripts containing an expanded CUG repeat are retained in nuclear foci and cause numerous dysfunctions by interfering with biogenesis of other mRNAs. Prominent clinical features are progressive muscular weakness and myotonia, which affect skeletal muscles but also white muscles leading to digestive, urinary and obstetrical disorders. Functional prognosis correlates with motor handicap and vital prognosis is linked to cardiac rhythm disturbances and conduction defects due to progressive subendocardial fibrosis, and to complex respiratory dysfunctions, which associate restrictive lung disease, involvement of the central inspiratory pathway, and sleep apnea. Other clinical features are lens opacity, glucose intolerance, metabolic syndrome, several endocrine disorders (gonadal deficiency, hyperparathydoidism), or immunoglobulin deficiency due to immunoglobulin G hypercatabolism. Life expectancy is reduced in myotonic dystrophy, and death is mainly caused by respiratory complications, but also by cardiac arrhythmias. Moreover, an abnormal incidence of tumors has been reported. Therefore, myotonic dystrophy does not only concern neurologists but a multidisciplinary approach is necessary, including at least pneumologist, cardiologist, and physiotherapist. General internists should also be implicated, not only in the initial diagnosis step, but also in the diagnosis of complications and their treatments.
Assuntos
Distrofia Miotônica/diagnóstico , Adulto , Doenças do Sistema Endócrino/diagnóstico , Doenças do Sistema Endócrino/etiologia , Oftalmopatias/diagnóstico , Oftalmopatias/etiologia , Cardiopatias/diagnóstico , Cardiopatias/etiologia , Humanos , Músculo Esquelético/fisiopatologia , Miotonia/classificação , Miotonia/diagnóstico , Miotonia/etiologia , Distrofia Miotônica/complicações , Distrofia Miotônica/genética , Distrofia Miotônica/fisiopatologia , Neoplasias/diagnóstico , Neoplasias/etiologia , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/etiologia , Doenças Respiratórias/diagnóstico , Doenças Respiratórias/etiologiaRESUMO
PURPOSE: We analyzed the characteristics of the leukocyte differential and the clinical outcome in patients admitted in an emergency department with marked leukocytosis greater than 20×10(9)G/L. METHODS: We studied a case series of consecutive patients admitted in an emergency department. The medical records were retrospectively reviewed after patient discharge. Three groups were defined: patients with infectious disorders (group I), noninfectious disorders (group II), and trauma (group III). Admission in intensive care unit (ICU), consciousness impairment or death defined the subgroup S of high severity. RESULTS: Groups I, II and III comprised, respectively, 150, 95 and 86 patients. The group I presented with higher temperature and neutrophilia (22,2±4.9 vs 20.9±4.0 and 21.1±3.9×10(9)G/L; P<0.001), and more profound eosinopenia (0.058±0.094 versus 0.098±0.170 and 0.092±0.104×10(9)G/L; P<0.001) and lymphopenia (1.16±0.98 vs 1.53±1.04 and 1.73±1.10×10(9)G/L; P<0.001) than the two other groups. Both neutrophilia and lymphopenia were independent predictors of infection by multivariate analysis. Frequencies of admission in ICU were, respectively, 8.7%, 40% and 43% (P<0.001). Leukocyte and neutrophil counts were significantly higher and basophil count significantly lower in subgroup S. Overall, 13.6% of the patients died and were characterized by basopenia. CONCLUSION: Marked leukocytosis indicated severe illness. Lymphopenia, eosinopenia and temperature were significant predictors of infection. A more severe clinical course was correlated with higher neutrophilia and basopenia.
Assuntos
Serviço Hospitalar de Emergência , Leucocitose/mortalidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Basófilos/metabolismo , Eosinofilia/epidemiologia , Feminino , Febre/epidemiologia , Humanos , Infecções/epidemiologia , Masculino , Pessoa de Meia-Idade , Neutropenia/epidemiologia , Estudos Retrospectivos , Adulto JovemRESUMO
BACKGROUND: Myotonic dystrophy (DM1) is a multisystemic disorder characterized by myotonic muscular weakness, and numerous organ impairments, especially cardiac and respiratory disorders. The goal of this study was to evaluate in DM1 patients the relationships between a new muscular disability scale, the motor function measure (MFM), and functional measurements of organ involvements. PATIENTS AND METHODS: The MFM and MDRS, as well as spirometry, blood gases, echocardiography, electrocardiogram, and ophthalomological examination were performed in 69 consecutive DM1 patients. RESULTS: Significant relationships were found between MDRS and MFM (p < 0.001) as well as between both and age and BMI of the patients. Patients with total MFM below 76 had a higher risk of respiratory insufficiency, conduction disorders, left ventricular dysfunction, hypoxemia and cataract than the other DM1 patients. CONCLUSION: The MFM provides an effective evaluation of muscular disability in DM1 patients. Cardiac and respiratory involvements are correlated with lower MFM.
Assuntos
Coração/fisiopatologia , Músculos/fisiopatologia , Adolescente , Adulto , Idoso , Feminino , Força da Mão , Humanos , Masculino , Pessoa de Meia-Idade , Atividade Motora , Força Muscular , Debilidade Muscular/etiologia , Distrofia Miotônica/patologia , Distrofia Miotônica/fisiopatologia , Insuficiência Respiratória/etiologia , Músculos Respiratórios/fisiopatologia , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Adulto JovemRESUMO
INTRODUCTION: Ornithine transcarbamylase (OTC) deficiency is a X-linked inherited disorder characterized by hyperammoniemic encephalopathy in male neonates. However, there is an increased evidence of late-onset disease, including in adults. CASE REPORTS: A 23-year-old woman presented with vomiting, somnolence, confusion and hyperammonemia. Familial history revealed OTC deficiency in three brothers and one sister, but urinary orotic acid level was normal at birth in the reported patient who therefore was considered as mutation-free. The mother was asymptomatic but had cognitive defect and moderate mental deficiency. Molecular biology demonstrated that both our patient and her mother were heterozygous for complete OCT deletion. CONCLUSION: OCT deficiency could be diagnosed in adult patients at any age and clinical features are various, including hyperammonemic encephalopathy, psychiatric disorders or mental deficiency.
Assuntos
Doença da Deficiência de Ornitina Carbomoiltransferase , Feminino , Humanos , Pessoa de Meia-Idade , Doença da Deficiência de Ornitina Carbomoiltransferase/diagnóstico , Doença da Deficiência de Ornitina Carbomoiltransferase/genética , Adulto JovemRESUMO
Isolated lesions of vasculitis are described in different organs, notably female genital tract. Exhaustive clinic and paraclinic exams are necessary to exclude an occult systemic vasculitis. We report a case of vasculitis that was restricted to uterine cervix and isthmus, fortuitously discovered by a 45-years-old woman after hysterectomy. At histological examination, necrotizing vasculitis of small and medium-sized arteries was found, suggesting diagnosis of polyarteritis nodosa. There was no argument for systemic vasculitis.